Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

..Starting node
..Enamel agenesis (HP:0033785)

Term ID:

33785

Name:

Enamel agenesis

Synonym:

Definition:

Complete or almost complete absence of enamel.

Comments:

Reference:

HP:0033785

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033785	HP:0033785	Enamel agenesis	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome	61
HP:0033785	HP:0033785	Enamel agenesis	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	25

Genes (2) :CNNM4 RAD21

Diseases (2) :OMIM:217080 OMIM:614701

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.